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BIRC8 Gene

protein-coding   GIFtS: 51
GCID: GC19M053792

Baculoviral IAP Repeat Containing 8

(Previous name: baculoviral IAP repeat-containing 8)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Baculoviral IAP Repeat Containing 81 2     ILP-22 3
IAP-Like Protein 21 2 3     ILP22 3
Inhibitor Of Apoptosis-Like Protein 21 2 3     Baculoviral IAP Repeat-Containing Protein 82
Baculoviral IAP Repeat-Containing 81 2     hILP22
Testis-Specific Inhibitor Of Apoptosis2 3     

External Ids:    HGNC: 148781   Entrez Gene: 1124012   Ensembl: ENSG000001630987   UniProtKB: Q96P093   

Export aliases for BIRC8 gene to outside databases

Previous GC identifers: GC19M054438 GC19M054154 GC19M058468 GC19M058484 GC19M050113


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for BIRC8 Gene:
BIRC8 (baculoviral IAP repeat containing 8) is a protein-coding gene. GO annotations related to this gene include scaffold protein binding and protease binding. An important paralog of this gene is BIRC3.

UniProtKB/Swiss-Prot: BIRC8_HUMAN, Q96P09
Function: Protects against apoptosis mediated by BAX




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the BIRC8 gene promoter:
         HFH-3   Nkx3-1   Nkx3-1 v4   Spz1   FOXD1   Nkx3-1 v1   Evi-1   FOXI1   Nkx3-1 v2   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBIRC8 promoter sequence
   Search Chromatin IP Primers for BIRC8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BIRC8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Ensembl cytogenetic band:  19q13.42   HGNC cytogenetic band: 19q13.3-q13.4

BIRC8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BIRC8 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M053792:  view genomic region     (about GC identifiers)

Start:
53,792,854 bp from pter      End:
53,794,875 bp from pter
Size:
2,022 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BIRC8_HUMAN, Q96P09 (See protein sequence)
Recommended Name: Baculoviral IAP repeat-containing protein 8  
Size: 236 amino acids; 27089 Da
Subunit: Binds to caspase-9
2 PDB 3D structures from and Proteopedia for BIRC8:
1XB0 (3D)        1XB1 (3D)    
Secondary accessions: Q6IPY1 Q96RW5

Explore the universe of human proteins at neXtProt for BIRC8: NX_Q96P09

Explore proteomics data for BIRC8 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See BIRC8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_203127.3  
    ENSEMBL proteins: 
     ENSP00000412957  

    BIRC8 Human Recombinant Protein Products:

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    Novus Biologicals BIRC8 Proteins
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for BIRC8 

     
    antibodies-online proteins for BIRC8 (6 products) 

     
    antibodies-online peptides for BIRC8

    BIRC8 Antibody Products:

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    Search eBioscience for ELISAs for BIRC8 
    antibodies-online kits for BIRC8 (3 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    BIRC: Baculoviral IAP repeat containing

    2 InterPro protein domains:
     IPR001841 Znf_RING
     IPR001370 BIR

    Graphical View of Domain Structure for InterPro Entry Q96P09

    ProtoNet protein and cluster: Q96P09

    2 Blocks protein domains:
    IPB001370 Baculovirus inhibitor of apoptosis protein repeat (BIR)
    IPB001841 Zn-finger


    UniProtKB/Swiss-Prot: BIRC8_HUMAN, Q96P09
    Similarity: Belongs to the IAP family
    Similarity: Contains 1 BIR repeat
    Similarity: Contains 1 RING-type zinc finger


    Find genes that share domains with BIRC8           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BIRC8_HUMAN, Q96P09
    Function: Protects against apoptosis mediated by BAX

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding ----
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
    GO:0097110scaffold protein binding ----
         
    Find genes that share ontologies with BIRC8           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for BIRC8:
     G0/1 arrest  Increased G1 DNA content 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for BIRC8

    miRNA
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    Sino Biological Human cDNA Clone for BIRC8
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    In Situ Assay
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BIRC8_HUMAN, Q96P09: Cytoplasm (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm IEA--
    GO:0005829cytosol ----
    GO:0043234protein complex ----
    GO:0048471perinuclear region of cytoplasm ----

    Find genes that share ontologies with BIRC8           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BIRC8 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Apoptosis (KEGG)
    Apoptosis0.37
    2Leishmaniasis
    Toxoplasmosis0.35
    3Apoptosis Signaling Pathways
    Apoptosis Signaling Pathways0.35
    4Class I MHC mediated antigen processing and presentation
    Ubiquitin mediated proteolysis0.35
    5Small cell lung cancer
    Small cell lung cancer


    Find genes that share SuperPaths with BIRC8           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for BIRC8
        Apoptosis Signaling Pathways




    5 Kegg Pathways  (Kegg details for BIRC8):
        Ubiquitin mediated proteolysis
    Apoptosis
    Toxoplasmosis
    Pathways in cancer
    Small cell lung cancer

        Pathway & Disease-focused RT2 Profiler PCR Array including BIRC8: 
              Apoptosis 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BIRC8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BIRC8 (Q96P093 ENSP000004129574) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2D2P628373, ENSP000003817174I2D: score=2 STRING: ENSP00000381717
    UBE2D3P610773, ENSP000003497224I2D: score=2 STRING: ENSP00000349722
    UBE2NP610883, ENSP000003161764I2D: score=2 STRING: ENSP00000316176
    UBE2V1Q134043, ENSP000003403054I2D: score=2 STRING: ENSP00000340305
    UBE2WQ96B023, ENSP000003974534I2D: score=2 STRING: ENSP00000397453
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IEA--
    GO:0043154negative regulation of cysteine-type endopeptidase activity involved in apoptotic process ----
    GO:0043524negative regulation of neuron apoptotic process ----

    Find genes that share ontologies with BIRC8           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BIRC8



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BIRC8 gene: 
    NM_033341.4  

    Unigene Cluster for BIRC8:

    Baculoviral IAP repeat containing 8
    Hs.348263  [show with all ESTs]
    Unigene Representative Sequence: AF420440
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000426466(uc002qbk.3)
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat BIRC8

    Additional mRNA sequence: 

    AF420440.1 BC039318.1 BC046168.1 BC056914.1 BC071665.1 

    1 DOTS entry:

    DT.95157906 

    19 AceView cDNA sequences:

    NM_033341 BC056914 BM554544 CD635059 BC046168 CD635055 BC071665 BM553272 
    CD635061 CD360013 BG773530 AF420440 BC039318 CD635057 BI829221 BI463479 
    CD635051 BP369062 CD635053 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BIRC8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCAGCGCGG
    BIRC8 Expression
    About this image

    BIRC8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BIRC8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.348263

    UniProtKB/Swiss-Prot: BIRC8_HUMAN, Q96P09
    Tissue specificity: Testis specific in normal tissues

        Pathway & Disease-focused RT2 Profiler PCR Array including BIRC8: 
              Apoptosis 384HT in human mouse rat

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for BIRC8 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves IAP36
    Gallus gallus X-linked inhibitor of apoptosis (XIA...
    23(a)
    1 → many
    4(15612770-15632841)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    22(a)
    1 → many
    GL343409.1(44539-55087)
    zebrafish
    (Danio rerio)
    Actinopterygii birc42 baculoviral IAP repeat-containing 4 75.91(n)   373108  AF439767.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Iap26
    th6
    thread
    16(a)
    15(a)
    many ↔ many
    many ↔ many
    2R(11819675-11822330)
    3L(16031510-16044134)
            Species with no ortholog for BIRC8

    ENSEMBL Gene Tree for BIRC8 (if available)
    TreeFam Gene Tree for BIRC8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BIRC8 gene
    BIRC32  BIRC72  NLRC42  NAIP2  BIRC22  XIAP2  
    2 SIMAP similar genes for BIRC8 using alignment to 2 protein entries:     BIRC8_HUMAN (see all proteins):
    XIAP    ILP3

    Find genes that share paralogs with BIRC8           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BIRC8 (see all 153)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1932122271,2
    --53792390(+) AGTCAA/GTATAC 1 -- int10--------
    rs1170208901,2
    C,F--53792530(+) TGCCAA/CCTAAA 1 -- int11Minor allele frequency- C:0.05EA 120
    rs104117011,2
    C,F,A--53792606(+) CCTCCG/ACCTCC 1 -- int15Minor allele frequency- A:0.33NA WA CSA 9
    rs1169422871,2
    F--53792737(+) ATGATC/TCCACC 1 -- int11Minor allele frequency- T:0.01NA 120
    rs735907731,2
    C,F--53792744(+) CACCTC/TGGCCT 1 -- int12Minor allele frequency- T:0.50WA 4
    rs1852300411,2
    --53792785(+) ACCACA/GCCTGG 1 -- int10--------
    rs81060551,2
    C,F--53792794(+) GGCTTG/CCATTT 1 -- int18Minor allele frequency- C:0.36NA WA CSA EA 368
    rs735907761,2
    C,F--53792851(+) ACTTAA/GAGTTG 1 -- int13Minor allele frequency- G:0.15WA 122
    rs104191651,2
    C,F--53792871(+) ACACAT/CTTAAT 1 -- ut311Minor allele frequency- C:0.02WA 118
    rs2002519661,2
    --53792953(+) ATAACC/TGCGCT 2 A syn10--------

    HapMap Linkage Disequilibrium report for BIRC8 (53792854 - 53794875 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for BIRC8:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718787CNV Deletion23290073
    esv2718812CNV Deletion23290073
    nsv817865CNV Gain17921354
    nsv912342CNV Gain21882294
    esv5629OTHER Inversion19470904
    esv6489OTHER Inversion19470904

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BIRC8
    DNA2.0 Custom Variant and Variant Library Synthesis for BIRC8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    Find genes that share disorders with BIRC8           About GenesLikeMe

    Genetic Association Database (GAD): BIRC8
    Human Genome Epidemiology (HuGE) Navigator: BIRC8 (1 document)

    Export disorders for BIRC8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BIRC8 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with BIRC8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of ILP-2, a novel member of the inhibitor of apoptosis protein family. (PubMed id 11390657)1, 2, 3 Richter B.W.M.... Duckett C.S. (Mol. Cell. Biol. 2001)
    2. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    3. The BIR domain of IAP-like protein 2 is conformationally unstable: implications for caspase inhibition. (PubMed id 15485395)1, 2 Shin H....Salvesen G.S. (Biochem. J. 2005)
    4. Genomic organization of the X-linked inhibitor of apoptosis and identification of a novel testis-specific transcript. (PubMed id 11597143)1, 2 Lagace M.... Korneluk R.G. (Genomics 2001)
    5. Identification of SUMOylated proteins in neuroblastoma cells after treatment with hydrogen peroxide or ascorbate. (PubMed id 21110914)1 Grant M.M. (BMB Rep 2010)
    6. Analysis of the human E2 ubiquitin conjugating enzyme protein interaction network. (PubMed id 19549727)1 Markson G....Sanderson C.M. (Genome Res. 2009)
    7. A comprehensive framework of E2-RING E3 interactions of the human ubiquitin-proteasome system. (PubMed id 19690564)1 van Wijk S.J....Timmers H.T. (Mol. Syst. Biol. 2009)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (Nature 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 112401 HGNC: 14878 AceView: BIRC8 Ensembl:ENSG00000163098 euGenes: HUgn112401
    ECgene: BIRC8 Kegg: 112401 H-InvDB: BIRC8

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BIRC8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BIRC8 gene:
    Search GeneIP for patents involving BIRC8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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